Variant report

Variant	rs16976749
Chromosome Location	chr18:11848813-11848814
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:11848810-11859649	IMR90	lung:	n/a	n/a
2	POLR2A	chr18:11848807-11848914	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:11844070..11848990-chr18:11849011..11853292,8	K562	blood:
2	chr18:11848574..11852252-chr18:11979272..11982648,7	K562	blood:
3	chr18:11848600..11852886-chr18:11853629..11859008,5	K562	blood:
4	chr18:11832341..11834329-chr18:11848035..11849911,2	MCF-7	breast:
5	chr18:11812501..11815229-chr18:11848364..11850708,2	K562	blood:
6	chr18:11848334..11851734-chr18:11906595..11909240,3	K562	blood:
7	chr18:11754391..11755995-chr18:11847330..11848928,2	MCF-7	breast:

No data

Variant related genes	Relation type
CHMP1B	TF binding region
ENSG00000141404	Chromatin interaction
ENSG00000255112	Chromatin interaction
ENSG00000273141	Chromatin interaction
ENSG00000272703	Chromatin interaction
ENSG00000141401	Chromatin interaction
ENSG00000154889	Chromatin interaction
ENSG00000267165	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1249628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16976742	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3885902	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4371220	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5018698	1.00[ASN][1000 genomes]
rs5018699	1.00[ASN][1000 genomes]
rs5018701	1.00[ASN][1000 genomes]
rs5018702	1.00[ASN][1000 genomes]
rs5018703	1.00[ASN][1000 genomes]
rs5018704	1.00[ASN][1000 genomes]
rs61462499	1.00[ASN][1000 genomes]
rs62097389	0.91[ASN][1000 genomes]
rs715688	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7228231	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7241172	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7241199	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7241336	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73409587	1.00[ASN][1000 genomes]
rs73409590	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73944918	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73944920	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11825400-11849800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr18:11830800-11849000	Weak transcription	A549	lung
3	chr18:11837400-11849200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr18:11837400-11849200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr18:11840400-11849200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr18:11841000-11849600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr18:11841000-11849800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:11841200-11849400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:11845000-11849200	Weak transcription	HMEC	breast
10	chr18:11847200-11849600	Enhancers	Hela-S3	cervix
11	chr18:11847800-11849800	Weak transcription	Right Atrium	heart
12	chr18:11848200-11849200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr18:11848200-11849400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr18:11848400-11849000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr18:11848400-11849400	Weak transcription	K562	blood
16	chr18:11848400-11849600	Weak transcription	HepG2	liver
17	chr18:11848400-11849800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr18:11848600-11849000	Weak transcription	Placenta	Placenta

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